Canonical Allele Identifier: CA2580070663
Gene: IDUA HGNC NCBI

Linked Data

ClinVar Variation Id: 2440866
ClinVar RCV Id: RCV003146167

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002382_1002392del , CM000666.2:g.1002382_1002392del GRCh38
NC_000004.11:g.996170_996180del , CM000666.1:g.996170_996180del GRCh37
NC_000004.10:g.986170_986180del NCBI36
NG_008103.1:g.20386_20396del

Transcript Alleles

HGVS Amino-acid change
ENST00000247933.9:c.1086_1096del ENSP00000247933.4:p.Gln362HisfsTer?
ENST00000514224.2:c.1086_1096del MANE Select ENSP00000425081.2:p.Gln362HisfsTer?
ENST00000652070.1:n.1142_1152del
ENST00000247933.8:c.1086_1096del ENSP00000247933.4:p.Gln362HisfsTer?
ENST00000514224.1:c.690_700del ENSP00000425081.1:p.Gln230HisfsTer?
ENST00000514698.5:n.1193_1203del
NM_000203.4:c.1086_1096del NP_000194.2:p.Gln362HisfsTer?
NR_110313.1:n.1174_1184del
XM_006713882.2:c.690_700del XP_006713945.1:p.Gln230HisfsTer?
XM_011513459.1:c.1152_1162del XP_011511761.1:p.Gln384HisfsTer?
XM_011513460.1:c.945_955del XP_011511762.1:p.Gln315HisfsTer?
XM_011513461.1:c.879_889del XP_011511763.1:p.Gln293HisfsTer?
XM_011513462.1:c.798_808del XP_011511764.1:p.Gln266HisfsTer?
XM_011513463.1:c.798_808del XP_011511765.1:p.Gln266HisfsTer?
XR_924947.1:n.1155_1165del
NM_000203.5:c.1086_1096del MANE Select NP_000194.2:p.Gln362HisfsTer?
NM_001363576.1:c.690_700del NP_001350505.1:p.Gln230HisfsTer?
XM_011513461.2:c.879_889del XP_011511763.1:p.Gln293HisfsTer?
XM_017008163.1:c.126_136del XP_016863652.1:p.Gln42HisfsTer?